CTSZ c.305C>T ;(p.A102V)

Variant ID: 20-57581379-G-A

NM_001336.3(CTSZ):c.305C>T;(p.A102V)

This variant was identified in 1 publication

View GRCh38 version.



Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP

Publications:

Identification of PCSK9-like human gene knockouts using metabolomics, proteomics, and whole-genome sequencing in a consanguineous population.

Cell Genomics
Belkadi, Aziz A; Thareja, Gaurav G; Abbaszadeh, Fatemeh F; Badii, Ramin R; Fauman, Eric E; Albagha, Omar M E OME; , ; Suhre, Karsten K
Publication Date: 2023-01-11

Variant appearance in text: CTSZ: Ala102Val; rs369011055
PubMed Link: 36777185
Variant Present in the following documents:
  • mmc5.xlsx, sheet 2
View BVdb publication page